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| Prepair 1000+ v1.3 | TYRP1 | Seb Lunke Added phenotypes Albinism, oculocutaneous, type III, 203290 (3) for gene: TYRP1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | TYR | Seb Lunke Added phenotypes Albinism, oculocutaneous, type IA, 203100 (3) for gene: TYR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | TAT | Seb Lunke Added phenotypes Tyrosinemia, type II (MIM#276600) for gene: TAT | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | HPD | Seb Lunke Added phenotypes Tyrosinemia, type III, 276710 (3) for gene: HPD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | FAH | Seb Lunke Added phenotypes Tyrosinemia, type I, 276700 (3) for gene: FAH | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.162 | TAT | Zornitza Stark reviewed gene: TAT: Rating: AMBER; Mode of pathogenicity: None; Publications: 28255985; Phenotypes: Tyrosinaemia, type II, MIM# 276600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.85 | TAT |
Crystle Lee gene: TAT was added gene: TAT was added to Reproductive Carrier Screen_VCGS. Sources: Literature Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAT were set to 16574453 Phenotypes for gene: TAT were set to Tyrosinemia, type II (MIM#276600) Review for gene: TAT was set to AMBER Added comment: Well established gene-disease association. Also known as Richner-Hanhart syndrome, the clinical hallmarks consist of a triad of painful palmoplantar keratoderma, keratitis with photophobia and variable mental impairment. RHS shows inter and intrafamilial phenotypic variability. Phenotype variability observed even among individuals sharing the same pathogenic variant. Sources: Literature |
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| Prepair 1000+ v0.0 | TYRP1 |
Zornitza Stark gene: TYRP1 was added gene: TYRP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYRP1 were set to Albinism, oculocutaneous, type III, 203290 (3) |
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| Prepair 1000+ v0.0 | TYR |
Zornitza Stark gene: TYR was added gene: TYR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TYR were set to Albinism, oculocutaneous, type IA, 203100 (3) |
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| Prepair 1000+ v0.0 | HPD |
Zornitza Stark gene: HPD was added gene: HPD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HPD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HPD were set to Tyrosinemia, type III, 276710 (3) |
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| Prepair 1000+ v0.0 | FAH |
Zornitza Stark gene: FAH was added gene: FAH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAH were set to Tyrosinemia, type I, 276700 (3) |
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